Variant report

Variant	rs72995390
Chromosome Location	chr2:152659912-152659913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152639494..152642150-chr2:152659901..152662839,2	K562	blood:
2	chr2:152653051..152655697-chr2:152658456..152660415,2	K562	blood:
3	chr2:152656997..152660180-chr2:152663044..152665529,3	K562	blood:
4	chr2:152658528..152660936-chr2:152662240..152664353,2	K562	blood:
5	chr2:152657917..152660487-chr2:152685208..152686908,2	K562	blood:
6	chr2:152644348..152647772-chr2:152655102..152659949,6	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57096978	1.00[AMR][1000 genomes]
rs59607184	1.00[AMR][1000 genomes]
rs59681554	1.00[AMR][1000 genomes]
rs72995383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995402	1.00[AMR][1000 genomes]
rs73007985	1.00[AMR][1000 genomes]
rs73011606	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011622	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3693430	chr2:152648677-152681200	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152616800-152662400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:152617000-152669400	Weak transcription	Gastric	stomach
3	chr2:152619000-152677400	Weak transcription	Brain Substantia Nigra	brain
4	chr2:152622200-152661800	Weak transcription	Fetal Kidney	kidney
5	chr2:152623000-152680000	Weak transcription	Spleen	Spleen
6	chr2:152624000-152662600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:152625400-152660000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:152629000-152661800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:152631400-152667200	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:152631600-152661800	Weak transcription	HMEC	breast
11	chr2:152632200-152679200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:152633000-152662200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:152634000-152665400	Weak transcription	Fetal Stomach	stomach
14	chr2:152634000-152683400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:152634200-152661000	Weak transcription	A549	lung
16	chr2:152634600-152661800	Weak transcription	NHEK	skin
17	chr2:152634800-152672200	Weak transcription	Right Ventricle	heart
18	chr2:152636000-152662400	Weak transcription	Fetal Brain Female	brain
19	chr2:152636400-152661800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:152636600-152661600	Weak transcription	Colonic Mucosa	Colon
21	chr2:152638600-152661800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:152638600-152662000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:152638600-152665200	Weak transcription	Pancreas	Pancrea
24	chr2:152638600-152671000	Weak transcription	Thymus	Thymus
25	chr2:152638800-152665200	Weak transcription	Fetal Intestine Small	intestine
26	chr2:152638800-152668200	Weak transcription	Lung	lung
27	chr2:152638800-152672800	Weak transcription	Aorta	Aorta
28	chr2:152642000-152661800	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:152642000-152665400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:152642200-152661200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:152642200-152662000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:152642200-152670400	Weak transcription	Brain Angular Gyrus	brain
33	chr2:152642400-152661200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:152642800-152661200	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:152642800-152662600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:152643000-152660200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:152643000-152668200	Weak transcription	NHDF-Ad	bronchial
38	chr2:152643400-152662200	Weak transcription	Brain Germinal Matrix	brain
39	chr2:152643400-152679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:152644800-152662000	Weak transcription	Ovary	ovary
41	chr2:152644800-152676800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:152646400-152661000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:152649000-152662400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:152649000-152680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:152650000-152661200	Weak transcription	Left Ventricle	heart
46	chr2:152650000-152661800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:152650200-152662600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:152650600-152661800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:152652800-152660000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:152654000-152662000	Weak transcription	Psoas Muscle	Psoas

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